Linked Data
ClinVar Variation Id:
2105039
ClinVar RCV Id:
RCV003014833
dbSNP Id:
rs781691242
ExAC:
2:3482981 C / T
gnomAD v2:
2-3482981-C-T
gnomAD v4:
2-3479210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3479210C>T , CM000664.2:g.3479210C>T | GRCh38 |
| NC_000002.11:g.3482981C>T , CM000664.1:g.3482981C>T | GRCh37 |
| NC_000002.10:g.3461988C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.1966-9C>T (TRAPPC12) MANE Select | ENSP00000324318.5:n.1966-9C>T | |
| ENST00000324266.9:c.1966-9C>T (TRAPPC12) | ENSP00000324318.5:n.1966-9C>T | |
| ENST00000382110.6:c.1966-9C>T (TRAPPC12) | ENSP00000371544.2:n.1966-9C>T | |
| ENST00000415624.5:c.463-9C>T (TRAPPC12) | ENSP00000396592.1:n.463-9C>T | |
| ENST00000416918.5:c.125-9C>T (TRAPPC12) | ||
| ENST00000417243.5:c.699-9C>T (TRAPPC12) | ||
| ENST00000452495.1:c.169+277C>T (TRAPPC12) | ||
| ENST00000469400.1:n.372-9C>T (TRAPPC12) | ||
| ENST00000493792.1:n.221-9C>T (TRAPPC12) | ||
| ENST00000497597.5:n.3054-9C>T (TRAPPC12) | ||
| NM_016030.5:c.1966-9C>T (TRAPPC12) | NP_057114.5:n.1966-9C>T | |
| XM_005264693.2:c.1966-9C>T (TRAPPC12) | XP_005264750.1:n.1966-9C>T | |
| XM_011510350.1:c.1852-9C>T (TRAPPC12) | XP_011508652.1:n.1852-9C>T | |
| XM_011510355.1:c.1021-9C>T (TRAPPC12) | XP_011508657.1:n.1021-9C>T | |
| XM_011510356.1:c.898-9C>T (TRAPPC12) | XP_011508658.1:n.898-9C>T | |
| XR_426956.2:n.2063-9C>T (TRAPPC12) | ||
| NM_001321102.1:c.1966-9C>T (TRAPPC12) | NP_001308031.1:n.1966-9C>T | |
| XM_011510350.2:c.1852-9C>T (TRAPPC12) | XP_011508652.1:n.1852-9C>T | |
| XM_011510355.2:c.1021-9C>T (TRAPPC12) | XP_011508657.1:n.1021-9C>T | |
| XR_001738762.1:n.3086-9C>T (TRAPPC12) | ||
| XR_426956.3:n.2501-9C>T (TRAPPC12) | ||
| NM_016030.6:c.1966-9C>T (TRAPPC12) MANE Select | NP_057114.5:n.1966-9C>T | |
| NM_001321102.2:c.1966-9C>T (TRAPPC12) | NP_001308031.1:n.1966-9C>T | |
| NR_046720.1:n.3784G>A (TRAPPC12-AS1) |